Hoda Y. Tomoum

Cairo, C, Egypt

Last Updated: 09/26/2026

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Found 19 publications

Very-Early-Onset Treatment-Refractory Pediatric Chronic Inflammatory Demyelinating Polyradiculoneuropathy Responsive to Multimodal Therapy.

Very-Early-Onset Treatment-Refractory Pediatric Chronic Inflammatory Demyelinating Polyradiculoneuropathy Responsive to Multimodal Therapy.

Journal: Journal of child neurology

Published: December 16, 2025

Screening for Biotinidase deficiency in children with spinal cord demyelination.

Screening for Biotinidase deficiency in children with spinal cord demyelination.

Journal: Multiple sclerosis and related disorders

Published: October 25, 2025

The RAB3A hot spot variant R83W causes spasticity as part of the ataxia-spasticity spectrum.

The RAB3A hot spot variant R83W causes spasticity as part of the ataxia-spasticity spectrum.

Journal: Brain : a journal of neurology

Published: September 15, 2025

Treatment response in children with relapsing MOG-antibody associated disease.

Treatment response in children with relapsing MOG-antibody associated disease.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: April 11, 2025

Clinical and radiological spectrum of central nervous system restricted haemophagocytic lymphohistiocytosis.

Clinical and radiological spectrum of central nervous system restricted haemophagocytic lymphohistiocytosis.

Journal: British journal of haematology

Published: January 27, 2025

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.

Journal: Brain : a journal of neurology

Published: March 14, 2024

Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability.

Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 01, 2024

Polyneuritis cranialis as a unique initial presentation of juvenile systemic lupus erythematosus: Case report.

Polyneuritis cranialis as a unique initial presentation of juvenile systemic lupus erythematosus: Case report.

Journal: Lupus

Published: November 10, 2023

TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.

TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.

Journal: Brain : a journal of neurology

Published: April 18, 2023

Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.

Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.

Journal: Human genetics

Published: February 18, 2023

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 07, 2022

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients.

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients.

Journal: European journal of human genetics : EJHG

Published: February 16, 2022

Showing 1-12 of 19

Last Updated: 09/26/2026